ZMP

bbs4

Ensembl ID:

ENSDARG00000063522

ZFIN ID:

ZDB-GENE-060126-2

Description:

Bardet-Biedl syndrome 4 [Source:RefSeq peptide;Acc:NP_001070934]

Human Orthologue:

BBS4

Human Description:

Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:969]

Mouse Orthologue:

Bbs4

Mouse Description:

Bardet-Biedl syndrome 4 (human) Gene [Source:MGI Symbol;Acc:MGI:2143311]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa11279	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa11279

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000092919	Nonsense	298	359	12	16
ENSDART00000122929	Nonsense	298	528	12	16

The following transcripts of ENSDARG00000063522 do not overlap with this mutation:

ENSDART00000139517

Genomic Location (Zv9):

Chromosome 25 (position 2636410)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	2543801
GRCz11	25	2697191

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATTTATCTTTTGATATTTMAGGCCATCAGCTGTCTGAAGAGAGCGAATTA[T/G]CTGTCTCCKTTTGACTGGAAGATTYTGTATAATCTGGGTTTGGTTCACCT

Long Flanking Sequence:

AAAGCTTTCGAGCATCTGGGAAACGCTCTGACCTATGACCCCAATAACTTTAAGGTGAGGCGCAGTTTCAGTTGTATGCTGTATGTGTGTGTTGCCTTTGGTTTGCCTTATGAACTGTGAAGAAAGACCTGTTTTGATATTTGTGTTCTCTATTGAAGCTGTTTTTGCATTGCATAAAGTGCTATAAAATTGAAGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGGCCATCCTTGCGGCTGGCAGTATGATGCAGACTCATGGAGATTATGACGTGGCCATGAACAAGTATCGTGTGGCGGCATACGCTGTCCCCGAGAGCCCACCTCTCTGGAATAACATCGGCATGTGCTTCTTCGGCAAAAAGAAATACGTCGCTGTGAGTTACACACCATAACTACAACAACTAATGCTTAAATGTAGCTTTATTGTACGTATATATATTTATCTTTTGATATTTCAGGCCATCAGCTGTCTGAAGAGAGCGAATTA[T/G]CTGTCTCCGTTTGACTGGAAGATTCTGTATAATCTGGGTTTGGTTCACCTCACCATGCAGCAGTTCGCTTCCGCTTTCCACTTTCTGAGCGCCGCCATCAACCTGCGGCCACGCATGAGTGAACTATACATGCTGCTTGCCGGTAAATATATATCACATATGATCATATATATATATGTATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTGTGTGTATATATATATATATATATATATATATATATGTATGTATATATACACACACACATACACATATATATATAGACAAAAGTGAGGTATATATGCTCCTCGCAGATAAATGTATATCGCGTAATGATCATATATAGACATAAGTGAACTATACCTGCTGTTTGCGGGAAAATATACATCACGTTCTGATCATATATATACATAAGTGAACTATACATCCTTCTTGCGGGTAAATATACATCATATACTGAT

Associated Phenotype:

Not determined